Pigment Intensity in Dogs is Associated with a Copy Number Variant Upstream of KITLG. [PDF]
, 2020 Dogs exhibit a wide variety of coat color types, and many genes have been identified that control pigment production, appearance, and distribution. Some breeds, such as the Nova Scotia Duck Tolling Retriever (NSDTR), exhibit variation in pheomelanin ...
Affolter, Verena +6 more
core +2 more sources
First record of pigmentation disorder in the Fringe-lipped Bat Trachops cirrhosus (Spix, 1823) (Chiroptera: Phyllostomidae) from southeast Brazil [PDF]
Biodiversity Data Journal, 2019 Piebaldism is a genetic pigmentation disorder, which is caused by absence of melanocytes in parts of the skin and/or hair follicles, with eyes and claws normally pigmented.
Ianna Borloti +2 more
doaj +3 more sources
Retraction: Piebaldism: A Brief Report and Review of the Literature [PDF]
Indian Dermatology Online Journaldoaj +2 more sources
Anomalous Coloration of Indo-Pacific Humpback Dolphins off Southern China
Journal of Marine Science and Engineering, 2023 The Indo-Pacific humpback dolphin is characterized by a particular ontogenic change in body color from dark gray at birth to pure white (or with a few dark-gray spots) after reaching adulthood.
Wenzhi Lin +7 more
doaj +1 more source
Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011 Identity Defect in melanocyte development; one of the first genetic disorders for which a pedigree was presented in 1786. Inheritance Autosomal dominant; frequency is about 2.5/105 newborns.
L. Larizza, A. Beghini
openaire +4 more sources
Journal of Biochemical and Clinical Genetics, 2023 Background: Piebaldism (OMIM #172800) is a rare autosomal dominant genodermatosis characterized by congenital poliosis and stable patches of leucoderma. Piebaldism is caused by mutations in the KIT and SNAI2 genes.
Fahrettin Duymus +6 more
doaj +1 more source
Phenotype of piebaldism resulted from heterozygous large fragment KIT deletion in one family [PDF]
Jichu yixue yu linchuangObjective To identify the pathogenic mutations in a family with piebaldism. Methods Clinical information and peripheral blood were collected from the patient with piebaldism and their parents.
ZHANG Rui, TAN Yan, MA Donglai, WANG Rongrong, ZHANG Xue
doaj +1 more source
Development of the stria vascularis and potassium regulation in the human fetal cochlea : insights into hereditary sensorineural hearing loss [PDF]
, 2015 Sensorineural hearing loss (SNHL) is one of the most common congenital disorders in humans, afflicting one in every thousand newborns. The majority is of heritable origin and can be divided in syndromic and nonsyndromic forms. Knowledge of the expression
Chuva de Sousa Lopes, Susana Marina +5 more
core +2 more sources
Piebaldism: A brief report and review of the literature
Indian Dermatology Online Journal, 2012 Piebaldism is a rare autosomal dominant disorder of melanocyte development characterized by a congenital white forelock and multiple symmetrical stable hypopigmented or depigmented macules.
Saurabh Agarwal, Amit Ojha
doaj +1 more source
SLUG transcription factor : a pro-survival and prognostic factor in gastrointestinal stromal tumour [PDF]
, 2017 Background: The SLUG transcription factor has been linked with the KIT signalling pathway that is important for gastrointestinal stromal tumour (GIST) tumourigenesis. Its clinical significance in GIST is unknown.
A Catalano +54 more
core +1 more source